Variant report

Variant	esv3329687
Chromosome Location	chr12:118229569-118233767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118231512..118233159-chr6:27099509..27102056,2	MCF-7	breast:
2	chr12:118233366..118234895-chr12:118237416..118240307,2	MCF-7	breast:
3	chr12:118154056..118156938-chr12:118233269..118235740,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFC5-3	chr12:118230609-118231640	NONHSAT031010
2	lnc-RFC5-3	chr12:118230609-118230896	NONHSAT031011
3	lnc-RFC5-3	chr12:118231849-118231988	NONHSAT031010
4	lnc-RFC5-3	chr12:118232138-118232581	NONHSAT031011
5	lnc-RFC5-3	chr12:118231011-118231427	NONHSAT031011
6	lnc-RFC5-3	chr12:118232054-118232581	NONHSAT031010

No data

Variant related genes	Relation type
ENSG00000124635	chromatin interactions
ENSG00000196787	chromatin interactions

Extended variants
information (count: 319 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150184343	chr12:118229622-118229623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530417352	chr12:118229630-118229631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530483940	chr12:118229659-118229660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372614201	chr12:118229677-118229678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1530541	chr12:118229731-118229732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs138733615	chr12:118229738-118229739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546511978	chr12:118229757-118229758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566737837	chr12:118229762-118229763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529249979	chr12:118229765-118229766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78085332	chr12:118229769-118229770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568472237	chr12:118229782-118229783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144598569	chr12:118229840-118229841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551073231	chr12:118229844-118229845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570921208	chr12:118229854-118229855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540005243	chr12:118229870-118229871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553315978	chr12:118229877-118229878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573194220	chr12:118229922-118229923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535758336	chr12:118229927-118229928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554897609	chr12:118229951-118229952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539209053	chr12:118229979-118229980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35680833	chr12:118229987-118229988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569333537	chr12:118229988-118229989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543870199	chr12:118230009-118230010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58943729	chr12:118230058-118230059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143604162	chr12:118230070-118230071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55765918	chr12:118230078-118230079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554948040	chr12:118230079-118230080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147201076	chr12:118230087-118230088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560129042	chr12:118230110-118230111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181297289	chr12:118230134-118230135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549301212	chr12:118230148-118230149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34784722	chr12:118230155-118230156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562033556	chr12:118230164-118230165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201428371	chr12:118230166-118230167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530942217	chr12:118230200-118230201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536760433	chr12:118230213-118230214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1530542	chr12:118230214-118230215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61937748	chr12:118230236-118230237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547133783	chr12:118230263-118230264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572820471	chr12:118230298-118230299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35724007	chr12:118230300-118230301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535721690	chr12:118230311-118230312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555657590	chr12:118230317-118230318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140362681	chr12:118230333-118230334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564745176	chr12:118230344-118230345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574984034	chr12:118230376-118230377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35235019	chr12:118230379-118230380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35342325	chr12:118230382-118230383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544023602	chr12:118230393-118230394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537827207	chr12:118230423-118230424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118210000-118230800	Weak transcription	Pancreas	Pancrea
2	chr12:118226000-118229800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:118226200-118229600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:118227000-118229600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:118227600-118230800	Weak transcription	Spleen	Spleen
6	chr12:118228600-118230600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:118228800-118230800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:118229400-118229600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:118229400-118230600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:118229600-118230800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:118229600-118231200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:118230600-118230800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:118230600-118231000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:118230600-118231000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr12:118230600-118231200	Enhancers	Right Ventricle	heart
16	chr12:118230600-118231200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr12:118230600-118231800	ZNF genes & repeats	Fetal Lung	lung
18	chr12:118230600-118232000	ZNF genes & repeats	Fetal Brain Male	brain
19	chr12:118230600-118232600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:118230600-118232600	ZNF genes & repeats	Fetal Kidney	kidney
21	chr12:118230800-118231000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:118230800-118231000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr12:118230800-118231000	Enhancers	Gastric	stomach
24	chr12:118230800-118231000	Enhancers	Pancreas	Pancrea
25	chr12:118230800-118231200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:118230800-118231200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:118230800-118231200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr12:118230800-118231600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:118230800-118232200	ZNF genes & repeats	Esophagus	oesophagus
30	chr12:118230800-118232400	ZNF genes & repeats	Spleen	Spleen
31	chr12:118230800-118232600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr12:118231000-118231200	Enhancers	Brain Anterior Caudate	brain
33	chr12:118231000-118231200	Flanking Active TSS	Pancreas	Pancrea
34	chr12:118231000-118231400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:118231000-118231400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:118231000-118231600	Genic enhancers	Gastric	stomach
37	chr12:118231200-118231400	Enhancers	Pancreas	Pancrea
38	chr12:118231200-118231600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:118231200-118231600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:118231200-118232400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr12:118231200-118232400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:118231400-118231600	Flanking Active TSS	Pancreas	Pancrea
43	chr12:118231400-118231600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr12:118231600-118231800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:118231600-118232000	Enhancers	Pancreas	Pancrea
46	chr12:118231600-118232400	ZNF genes & repeats	Gastric	stomach
47	chr12:118231600-118232400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:118231600-118232800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:118231800-118232400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:118232000-118232600	Genic enhancers	Pancreas	Pancrea

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